Retinal Arteries, Tortuosity of (RATOR)

Alias:
Retinal Arterial Tortuosity
Retinal Hemorrhage with Vascular Tortuosity
Tortuosity of Retinal Arteries
Rator
Retinal Arteriolar Tortuosity
Familial Isolated Retinal Arterial Tortuosity
Tortuosity, Arteries, Retinal
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Arteries, Tortuosity of, also known as retinal arterial tortuosity, is related to brain small vessel disease 1 with or without ocular anomalies and brain small vessel disease 1. An important gene associated with Retinal Arteries, Tortuosity of is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Extracellular matrix organization and Pleural mesothelioma. Affiliated tissues include smooth muscle and heart, and related phenotypes are retinal arteriolar tortuosity and retinal hemorrhage
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
19
171
7

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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